DisGeNET - a database of gene-disease associations

List of shared variants

Acid reflux, C4317146

Disease: Overriding toe

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
rs1560755661	TBCK	0.701	0.480	4	106171094	splice donor variant	CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/-	delins			44
rs1554208945	ZNF292	0.752	0.240	6	87260207	missense variant	A/C	snv			26
rs1057524157	DEAF1	0.776	0.200	11	686962	missense variant	A/C;T	snv			19
rs794727931	ALG8	0.790	0.240	11	78112692	missense variant	A/C	snv			19
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs771237928	NOTCH2	0.752	0.280	1	119915813	frameshift variant	G/-;GG	delins			14